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Article

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.

Orphanet journal of rare diseases - 18 Aug 2020

Vogt Marius, Girschick Hermann, Schweitzer Tilmann, Benoit Clemens, Holl-Wieden Annette, Seefried Lothar, Jakob Franz, Hofmann Christine

Abstract excerpt

BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical presentation is highly heterogeneous with a remarkably wide-ranging severity. HPP affects patients of all ages. In children HPP-related musculoskeletal symptoms may mimic rheumatologic conditions and...

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Identifiers

PMID: 32811521
DOI: 10.1186/s13023-020-01500-x
PMCID: PMC7436954

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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